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Hyperkeratosis as a clue to diagnosis in a patient with myopathy Ayşe Nurcan Cebeci, Barış Ekici1 Departments of Pediatric Endocrinology and 1Pediatric Neurology, Derince Research Hospital, Kocaeli, Turkey For correspondence: Dr. Barış Ekici, Derince Research Hospital, Kocaeli ‑ 41900, Turkey. E‑mail: [email protected] Ann Indian Acad Neurol 2013;16:668‑9

Muscle involvement in several forms can be the first manifestation of untreated hypothyroidism.[1] Although 75% of patients with acquired hypothyroidism have muscle complaints such as weakness, cramps, and myalgias; muscle hypertrophy is an extremely rare finding.[2] This condition is named as Hoffmann’s syndrome and is usually reported in young adults.[3,4] Here, we report distinctive hyperkeratosis and muscle hypertrophy in an adolescent secondary to untreated autoimmune hypothyroidism.

patient had a Herculean look, dry skin, and hyperkeratosis over extensor surfaces of the joints [Figures 1 and 2]. He had marked hypertrophy in shoulder and calf muscles bilaterally [Figure 3]. On palpation these muscles were stiff. Physical examination revealed proximal muscle weakness  (Medical Research

A 12‑year 1-month-old male patient admitted with fatigue, dry skin, muscle pain, and short stature. His height was 136.5  cm  (−2.01 standard deviation score  (SDS)) and weight was 35.1  kg  (−1.14 SDS). His pulse rate was slow  (55 beats per min) and blood pressure was normal (80/50 mmHg). The

Figure 2: Lichenification of the skin

Figure 1: Bilateral hyperkeratosis at patellar area Access this article online Quick Response Code:


DOI: 10.4103/0972-2327.120482

Figure 3: Muscle hypertrophy of calf

Annals of Indian Academy of Neurology, October-December 2013, Vol 16, Issue 4


Cebeci and Ekici: Hyperkeratosis in hypothyroid myopathy

Council Scale: 4/5) and diminished deep tendon reflexes. Creatine phosphokinase value was 1,850 U/L  (normal  (N): 30-200). Electromyography was found normal. His laboratory measurements revealed elevated thyrotropin and low free thyroxine levels with positive antithyroid antibodies. Genetic analysis for dystropin gene revealed no mutation. Hoffmann’s syndrome is a rare but treatable form of acquired myopathies and can be seen in children due to untreated hypothyroidism. Muscle hypertrophy accompanied by hyperkeratosis and short stature should alert clinicians for possible hormonal etiology.

References 1. Fessel WJ. Myopathy of hypothyroidism. Ann Rheum Dis


3. 4.

1968;27:590‑6. Duyff RF, Van den Bosch J, Laman DM, van Loon BJ, Linssen WH. Neuromuscular findings in thyroid dysfunction: A  prospective clinical and eletrodiagnostic study. J Neurol Neurosurg Psychiatry 2000;68:750‑5. Tuncel D, Cetinkaya A, Kaya B, Gokce M. Hoffmann’s syndrome: A case report. Med Princ Pract 2008;17:346‑8. Ozdag MF, Eroglu E, Ulas UH, Ipekdal I, Odabasi Z, Vural O. Early diagnosis and treatment reverse clinical features in Hoffmann’s syndrome due to hypothyroid myophaty: A case report. Acta Neurol Belg 2005;105:212‑3. How to cite this article: Cebeci AN, Ekici B. Hyperkeratosis as a clue to diagnosis in a patient with myopathy. Ann Indian Acad Neurol 2013;16:668-9. Received: 07‑06‑13, Revised: 09-06-13, Accepted: 29‑07‑13 Source of Support: Nil, Conflict of Interest: Nil

Annals of Indian Academy of Neurology, October-December 2013, Vol 16, Issue 4

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